Kenny syndrome: description of additional abnormalities and molecular studies

An 18-month-old girl presented with clinical manifestations of Kenny syndrome including growth retardation, ophthalmologic abnormalities, a persistent open anterior fontanel, dysmorphic facies, anemia, radiologic skeletal abnormalities, and severe hypoparathyroidism. Analysis of restriction patterns...

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Veröffentlicht in:	Human genetics 1988-09, Vol.80 (1), p.39-42
Hauptverfasser:	Bergada, I, Schiffrin, A, Abu Srair, H, Kaplan, P, Dornan, J, Goltzman, D, Hendy, G N
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - blood Abnormalities, Multiple - genetics Abnormalities, Multiple - immunology DNA - genetics DNA - isolation & purification DNA Restriction Enzymes Female Humans Immunoglobulins - analysis Infant Parathyroid Hormone - blood Syndrome
Online-Zugang:	Volltext
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